Mutagenetix > Incidental Mutations

Incidental Mutation 'R4198:Tbkbp1'

318644

Institutional Source

Beutler Lab

Gene Symbol

Tbkbp1

Ensembl Gene

ENSMUSG00000038517

Gene Name

TBK1 binding protein 1

Synonyms

3110043L15Rik

MMRRC Submission

041640-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4198 (G1)

Quality Score

113

Status

Not validated

Chromosome

Chromosomal Location

97136171-97151495 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to T at 97149068 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066078] [ENSMUST00000066078] [ENSMUST00000107613] [ENSMUST00000107614] [ENSMUST00000107614] [ENSMUST00000107615] [ENSMUST00000107615] [ENSMUST00000118375] [ENSMUST00000118375] [ENSMUST00000146374] [ENSMUST00000146374]

Predicted Effect

probably null
Transcript: ENSMUST00000066078

SMART Domains

Protein: ENSMUSP00000065461
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	156	N/A	INTRINSIC
low complexity region	168	173	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
coiled coil region	218	278	N/A	INTRINSIC
Pfam:TBD	287	342	2.8e-24	PFAM
low complexity region	343	432	N/A	INTRINSIC
low complexity region	460	477	N/A	INTRINSIC
low complexity region	552	562	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000066078

SMART Domains

Protein: ENSMUSP00000065461
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	156	N/A	INTRINSIC
low complexity region	168	173	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
coiled coil region	218	278	N/A	INTRINSIC
Pfam:TBD	287	342	2.8e-24	PFAM
low complexity region	343	432	N/A	INTRINSIC
low complexity region	460	477	N/A	INTRINSIC
low complexity region	552	562	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107613

SMART Domains

Protein: ENSMUSP00000103238
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	152	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107614

SMART Domains

Protein: ENSMUSP00000103239
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	156	N/A	INTRINSIC
low complexity region	168	173	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
coiled coil region	218	278	N/A	INTRINSIC
Pfam:TBD	289	343	4.1e-21	PFAM
low complexity region	460	477	N/A	INTRINSIC
low complexity region	552	562	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107614

SMART Domains

Protein: ENSMUSP00000103239
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	156	N/A	INTRINSIC
low complexity region	168	173	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
coiled coil region	218	278	N/A	INTRINSIC
Pfam:TBD	289	343	4.1e-21	PFAM
low complexity region	460	477	N/A	INTRINSIC
low complexity region	552	562	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107615

SMART Domains

Protein: ENSMUSP00000103240
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	156	N/A	INTRINSIC
low complexity region	168	173	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
coiled coil region	217	277	N/A	INTRINSIC
Pfam:TBD	286	341	4e-25	PFAM
low complexity region	342	431	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC
low complexity region	551	561	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107615

SMART Domains

Protein: ENSMUSP00000103240
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	156	N/A	INTRINSIC
low complexity region	168	173	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
coiled coil region	217	277	N/A	INTRINSIC
Pfam:TBD	286	341	4e-25	PFAM
low complexity region	342	431	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC
low complexity region	551	561	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000118375

SMART Domains

Protein: ENSMUSP00000112396
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	156	N/A	INTRINSIC
low complexity region	168	173	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
coiled coil region	217	277	N/A	INTRINSIC
Pfam:TBD	286	341	4e-25	PFAM
low complexity region	342	431	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC
low complexity region	551	561	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000118375

SMART Domains

Protein: ENSMUSP00000112396
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	156	N/A	INTRINSIC
low complexity region	168	173	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
coiled coil region	217	277	N/A	INTRINSIC
Pfam:TBD	286	341	4e-25	PFAM
low complexity region	342	431	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC
low complexity region	551	561	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000146374

SMART Domains

Protein: ENSMUSP00000114460
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	145	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000146374

SMART Domains

Protein: ENSMUSP00000114460
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	145	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183796

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal GM-CSF-derived bone marrow-derived dendritic cell differentiation and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,085,607	M1002I	probably benign	Het
Ap2b1	C	A	11: 83,342,603	Q481K	probably damaging	Het
Arhgap31	G	A	16: 38,623,913	A194V	probably damaging	Het
Atp10a	A	G	7: 58,813,686	D989G	probably damaging	Het
Ccny	G	A	18: 9,332,928	T201I	probably damaging	Het
Cdca5	T	C	19: 6,090,352	V181A	possibly damaging	Het
Ces1g	A	G	8: 93,305,868	I488T	probably benign	Het
Csmd2	A	G	4: 128,510,924	T2368A	probably benign	Het
Cux1	T	A	5: 136,286,848	I1113F	probably damaging	Het
Dnah3	C	T	7: 119,922,838	G4033D	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxg1	T	A	12: 49,385,299	S272T	possibly damaging	Het
Fyco1	T	C	9: 123,826,634	N1020D	probably benign	Het
Gprc5c	T	G	11: 114,863,860	L121R	probably damaging	Het
Hyou1	G	A	9: 44,388,859	R815H	probably damaging	Het
Kera	T	C	10: 97,612,973	*352Q	probably null	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lnpk	T	C	2: 74,569,109	E30G	probably damaging	Het
Map2	C	T	1: 66,425,298	R128C	probably damaging	Het
Olfr1357	A	T	10: 78,612,067	D191E	possibly damaging	Het
Olfr1381	G	A	11: 49,552,634	V296M	possibly damaging	Het
Olfr573-ps1	A	G	7: 102,941,797	F260S	probably damaging	Het
Olfr97	T	A	17: 37,232,134	M79L	probably benign	Het
Ror2	A	G	13: 53,110,644	M792T	probably benign	Het
Serpinb9d	A	G	13: 33,202,674		probably null	Het
Serpinb9d	A	G	13: 33,202,965	I339V	probably benign	Het
Slc1a1	A	G	19: 28,901,452	K197R	probably benign	Het
Snx20	A	G	8: 88,627,598	V168A	possibly damaging	Het
Sowaha	T	C	11: 53,478,568	E447G	possibly damaging	Het
Stard8	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	X: 99,066,508		probably benign	Het
Stx19	G	T	16: 62,822,676	C285F	possibly damaging	Het
Syp	A	G	X: 7,639,927		probably null	Het
Trim29	G	T	9: 43,311,380	E169*	probably null	Het
Ttll12	T	C	15: 83,577,013	N602D	probably damaging	Het
Zfp26	T	C	9: 20,436,716	T851A	probably benign	Het
Zfp316	T	C	5: 143,254,471	M598V	probably benign	Het
Zhx2	A	G	15: 57,821,729	I165V	probably benign	Het

Other mutations in Tbkbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Tbkbp1	APN	11	97137648	unclassified	probably benign
IGL01071:Tbkbp1	APN	11	97149562	missense	probably damaging	0.99
R0017:Tbkbp1	UTSW	11	97146289	unclassified	probably benign
R0445:Tbkbp1	UTSW	11	97149469	missense	probably damaging	1.00
R1468:Tbkbp1	UTSW	11	97148988	missense	probably damaging	1.00
R1468:Tbkbp1	UTSW	11	97148988	missense	probably damaging	1.00
R4737:Tbkbp1	UTSW	11	97148648	missense	probably damaging	1.00
R4816:Tbkbp1	UTSW	11	97138741	missense	probably benign	0.23
R4910:Tbkbp1	UTSW	11	97139130	missense	probably benign	0.23
R4947:Tbkbp1	UTSW	11	97138944	utr 3 prime	probably benign
R5571:Tbkbp1	UTSW	11	97148729	missense	probably damaging	1.00
R6083:Tbkbp1	UTSW	11	97147380	missense	probably damaging	1.00
R6207:Tbkbp1	UTSW	11	97146339	missense	probably damaging	1.00
R6595:Tbkbp1	UTSW	11	97138752	utr 3 prime	probably benign
R7678:Tbkbp1	UTSW	11	97149483	missense	probably damaging	1.00
R7684:Tbkbp1	UTSW	11	97147733	unclassified	probably benign
R8425:Tbkbp1	UTSW	11	97138851	missense	unknown
R8495:Tbkbp1	UTSW	11	97146603	missense	probably benign	0.04
X0020:Tbkbp1	UTSW	11	97148974	missense	probably damaging	0.99
Z1176:Tbkbp1	UTSW	11	97149528	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- GCGCTGAAGCTGATTTAGGG -3'
(R):5'- CTGAAGAAGTGGCTGCCTTG -3'

Sequencing Primer
(F):5'- CTGAAGCTGATTTAGGGAAGGC -3'
(R):5'- CCTTGGGGATGAGGAGCTC -3'

Posted On

2015-06-10